| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| RYR2 | I4867M | Ventricular tachycardia, polymorphic | High | 9 | 12093772, 16239587, 24025405 |
| RYR2 | I4867V | Catecholaminergic polymorphic ventricular tachycar | High | 9 | 23973953 |
To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in RYR1.
| RYR1 | DEYELYRVVFDITFFFFVIVILLAIIQGLI>I<DAFGELRDQQEQVKEDMETKCFICGIGSDY | 4968 |
| RYR2 | DEYEIYRIIFDITFFFFVIVILLAIIQGLI>I<DAFGELRDQQEQVKEDMETKCFICGIGNDY | 4897 |
| RYR3 | DPYEMYRIVFDITFFFFVIVILLAIIQGLI>I<DAFGELRDQQEQVREDMETKCFICGIGNDY | 4800 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.I4938T | c.14813T>C | Other Myopathy | rs111657878 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Increasing the number of diagnostic mutations in malignant hyperthermia. Hum Mutat. 2009 30(4):590-8. 19191329 | |||
| p.I4938M | c.14814C>G | Other Myopathy | rs118192159 | SIFT: Polyphen: | |
| Reports | Other Myopathy | RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene. J Med Genet. 2004 41(3):e33. 14985404 | |||
| Unknown | Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146 | ||||